Huntington’s Disease

Diagnosis

The diagnosis of Huntington’s disease typically begins with a detailed discussion about your symptoms, family medical history, and a general physical examination. Neurological assessments and mental health evaluations play a key role in confirming the diagnosis and understanding the extent of the disease.

Neurological exam

A neurologist conducts a series of tests to evaluate motor, sensory, and psychiatric symptoms, including:

• Reflexes, muscle strength, and balance

• Sense of touch, vision, and hearing

• Mood, behavior, and mental status

Neuropsychological testing

Standardized tests are used to assess various aspects of cognitive function such as:

• Memory and reasoning

• Mental agility and language skills

• Spatial reasoning abilities

If needed, in-depth neuropsychological testing may be conducted by licensed psychologists to evaluate the impact of Huntington’s disease on cognitive function.

Mental health evaluation

A psychiatrist may perform an evaluation to assess emotional and behavioral health. This may include an assessment of:

• Emotional state and behavior patterns

• Judgment and coping abilities

• Evidence of disordered thinking or substance abuse

Brain imaging and function tests

Imaging tests help reveal structural or functional changes in the brain that are characteristic of Huntington’s disease. Common imaging methods include:

• MRI (magnetic resonance imaging)

• CT (computerized tomography)

These scans can show brain changes in affected areas and rule out other possible causes of symptoms.

Genetic counseling and testing

If symptoms strongly suggest Huntington’s disease, a genetic test can confirm the diagnosis by detecting the altered gene responsible for the condition. This test may be especially helpful when there is no confirmed family history.

Before testing, a genetic counselor explains the potential benefits, emotional implications, and limitations of the results. The counselor also discusses inheritance patterns and family planning options.

Predictive genetic test

People with a family history of Huntington’s disease but no symptoms can choose to undergo predictive genetic testing. This test identifies whether they carry the defective gene but does not indicate when symptoms will appear or how severe they will be.

Some individuals choose to take the test for peace of mind or before having children, while others prefer not to know. Although laws protect against genetic discrimination, the emotional impact of a positive result can be significant, and testing should always be done after counseling.

Treatment

There is currently no cure for Huntington’s disease. However, medications and various therapies can help manage symptoms and improve quality of life. Treatment plans are regularly reviewed to address changes in symptoms and minimize side effects.

Medicines for movement disorders

Medications can help control involuntary movements and improve motor symptoms. Common options include:

• Tetrabenazine (Xenazine), deutetrabenazine (Austedo), and valbenazine (Ingrezza): FDA-approved drugs that reduce involuntary jerking and writhing movements (chorea). Possible side effects include drowsiness, restlessness, and depression.

• Antipsychotic medicines such as haloperidol, fluphenazine, olanzapine (Zyprexa), and aripiprazole (Abilify): These may help suppress movements but can cause side effects like muscle rigidity and slowness of movement.

• Other medicines like amantadine, levetiracetam (Keppra), and clonazepam (Klonopin) may also help but have limited effectiveness and possible side effects.

Medicines for mental health conditions

Psychiatric symptoms are common in Huntington’s disease, and treatment varies based on individual needs. Options include:

• Antidepressants: Citalopram, escitalopram, fluoxetine, and sertraline can help with depression and obsessive-compulsive symptoms. Side effects may include nausea, drowsiness, and low blood pressure.

• Antipsychotics: Quetiapine (Seroquel) and olanzapine (Zyprexa) can reduce aggression and agitation but may cause movement-related side effects.

• Mood stabilizers: Medicines such as divalproex (Depakote), carbamazepine (Tegretol), and lamotrigine (Lamictal) can help balance mood swings associated with bipolar disorder.

Psychotherapy

Talk therapy with a psychiatrist, psychologist, or clinical social worker can help manage behavioral symptoms and emotional challenges. It supports coping strategies, communication, and adaptation for both patients and families as the disease progresses.

Speech therapy

Huntington’s disease affects muscle control needed for speaking, eating, and swallowing. A speech therapist can assist with:

• Improving speech clarity

• Teaching alternative communication methods, such as picture boards or devices

• Addressing swallowing difficulties to improve nutrition and safety

Physical therapy

A physical therapist can design personalized exercises to help maintain strength, flexibility, balance, and coordination. Therapy may include:

• Techniques to improve posture and reduce falls

• Training on the use of walkers or wheelchairs when needed

• Adapted exercises to suit mobility levels

Occupational therapy

An occupational therapist helps individuals maintain independence and daily function for as long as possible. Recommendations may include:

• Installing handrails and other home modifications

• Using adaptive tools for dressing, bathing, eating, and drinking

• Teaching caregivers how to assist safely and effectively

Through a combination of medication, therapy, and supportive care, people living with Huntington’s disease can better manage symptoms and maintain their quality of life.